Article
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.
PLoS biology - 1 Jan 2012
Bayat Vafa, Thiffault Isabelle, Jaiswal Manish, Tétreault Martine, Donti Taraka, Sasarman Florin, Bernard Geneviève, Demers-Lamarche Julie, Dicaire Marie-Josée, Mathieu Jean, Vanasse Michel, Bouchard Jean-Pierre, Rioux Marie-France, Lourenco Charles M, Li Zhihong, Haueter Claire, Shoubridge Eric A, Graham Brett H, Brais Bernard, Bellen Hugo J
Abstract excerpt
An increasing number of genes required for mitochondrial biogenesis, dynamics, or function have been found to be mutated in metabolic disorders and neurological diseases such as Leigh Syndrome. In a forward genetic screen to identify genes required for neuronal function and survival in Drosophila photoreceptor neurons, we have identified mutations in the mitochondrial methionyl-tRNA synthetase, Aats-met, the...
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